Incidental Mutation 'R8081:Zfpm2'
ID 629377
Institutional Source Beutler Lab
Gene Symbol Zfpm2
Ensembl Gene ENSMUSG00000022306
Gene Name zinc finger protein, multitype 2
Synonyms FOG2, B330005D23Rik, FOG-2
MMRRC Submission 067514-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8081 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 40518438-40967988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40965644 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 710 (C710S)
Ref Sequence ENSEMBL: ENSMUSP00000051335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053467] [ENSMUST00000230319]
AlphaFold Q8CCH7
Predicted Effect probably damaging
Transcript: ENSMUST00000053467
AA Change: C710S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051335
Gene: ENSMUSG00000022306
AA Change: C710S

DomainStartEndE-ValueType
low complexity region 19 35 N/A INTRINSIC
ZnF_C2H2 250 270 4.27e1 SMART
ZnF_C2H2 296 320 1.25e-1 SMART
ZnF_C2H2 335 357 4.05e-1 SMART
ZnF_C2H2 363 385 6.23e-2 SMART
ZnF_C2H2 548 569 1.43e1 SMART
ZnF_C2H2 687 714 1.06e2 SMART
low complexity region 731 741 N/A INTRINSIC
ZnF_C2H2 854 874 5.4e1 SMART
ZnF_C2H2 1119 1145 4.99e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000230319
AA Change: C578S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.9%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit cardiac defects, including absence of coronary vasculature, resulting in lethality between E12.5 and E15.5. Conditional mutations reveal errors in ovary and testis development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A T 6: 83,138,313 (GRCm39) E119V probably damaging Het
Adamts2 A T 11: 50,668,004 (GRCm39) D522V probably damaging Het
Agtpbp1 A T 13: 59,676,221 (GRCm39) L183* probably null Het
Arhgap10 T C 8: 78,109,375 (GRCm39) I403V possibly damaging Het
Arhgef11 T C 3: 87,632,949 (GRCm39) S687P probably damaging Het
Cdhr1 C T 14: 36,815,967 (GRCm39) V144I probably benign Het
Cdk20 A G 13: 64,586,766 (GRCm39) I339V probably benign Het
Ceacam13 A G 7: 17,747,113 (GRCm39) K189E probably damaging Het
Cep290 C T 10: 100,394,038 (GRCm39) Q2082* probably null Het
Cgrrf1 A G 14: 47,091,468 (GRCm39) T331A probably benign Het
Cntn4 G A 6: 106,651,568 (GRCm39) V706I possibly damaging Het
Csrnp2 T C 15: 100,387,462 (GRCm39) D2G probably damaging Het
Cux2 A G 5: 122,007,519 (GRCm39) I714T probably benign Het
Cx3cr1 C T 9: 119,880,878 (GRCm39) E175K possibly damaging Het
Dennd1c G A 17: 57,381,139 (GRCm39) P163L possibly damaging Het
Dhtkd1 C T 2: 5,928,919 (GRCm39) E251K probably damaging Het
Epas1 C T 17: 87,136,797 (GRCm39) P787S probably benign Het
Epha2 T C 4: 141,049,605 (GRCm39) V737A probably damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fcsk T A 8: 111,615,783 (GRCm39) R515S probably benign Het
Fscb A T 12: 64,518,802 (GRCm39) M888K unknown Het
Gldc ACGACC AC 19: 30,135,987 (GRCm39) probably null Het
Gm14443 A T 2: 175,012,238 (GRCm39) C69* probably null Het
Gm19668 G A 10: 77,634,420 (GRCm39) A183V unknown Het
Gm49368 A G 7: 127,726,280 (GRCm39) R1231G unknown Het
Grin2c T C 11: 115,140,719 (GRCm39) Y1133C probably damaging Het
H3c13 C A 3: 96,176,309 (GRCm39) Y100* probably null Het
Hydin T C 8: 111,092,101 (GRCm39) S425P possibly damaging Het
Ifnl3 T C 7: 28,223,682 (GRCm39) S173P probably damaging Het
Igkv4-63 A T 6: 69,355,018 (GRCm39) S88T possibly damaging Het
Klhl5 C A 5: 65,320,268 (GRCm39) N607K possibly damaging Het
Lag3 A T 6: 124,882,410 (GRCm39) L362* probably null Het
Lats2 C A 14: 57,937,968 (GRCm39) G174C probably damaging Het
Mcm6 T C 1: 128,265,905 (GRCm39) E622G probably damaging Het
Med13l C A 5: 118,866,333 (GRCm39) H462Q probably damaging Het
Mrpl53 T A 6: 83,086,159 (GRCm39) F23I probably damaging Het
Muc5b T G 7: 141,417,743 (GRCm39) I3563S possibly damaging Het
Myo16 A C 8: 10,372,743 (GRCm39) L147F unknown Het
Npc1l1 G C 11: 6,167,768 (GRCm39) Q1008E probably benign Het
Npy4r A G 14: 33,868,524 (GRCm39) S255P probably damaging Het
Nup210 T C 6: 91,053,657 (GRCm39) N287D probably benign Het
Opn3 T A 1: 175,493,135 (GRCm39) H143L probably damaging Het
Or12e7 G T 2: 87,287,513 (GRCm39) M1I probably null Het
Or12j3 A T 7: 139,952,972 (GRCm39) L184M probably damaging Het
Or12j5 A T 7: 140,084,369 (GRCm39) M1K probably null Het
Or4k2 T A 14: 50,423,825 (GRCm39) N284I probably damaging Het
Or5ap2b-ps1 C T 2: 85,693,839 (GRCm39) P28L probably damaging Het
Pdcd7 C T 9: 65,253,967 (GRCm39) R182C probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Picalm T A 7: 89,840,451 (GRCm39) L540* probably null Het
Ppp1r21 T A 17: 88,866,272 (GRCm39) I356N probably damaging Het
Rgs6 C T 12: 83,094,347 (GRCm39) Q67* probably null Het
Ripor2 C A 13: 24,897,683 (GRCm39) Q794K probably benign Het
Rnf216 A T 5: 143,013,719 (GRCm39) I702N probably damaging Het
Robo4 T C 9: 37,316,936 (GRCm39) L417P probably damaging Het
Samhd1 A T 2: 156,943,358 (GRCm39) C605* probably null Het
Scaper C T 9: 55,823,330 (GRCm39) G22D unknown Het
Senp5 T C 16: 31,784,577 (GRCm39) T692A probably damaging Het
Six6 G T 12: 72,986,875 (GRCm39) G16W probably damaging Het
Slc38a8 A T 8: 120,212,269 (GRCm39) M358K possibly damaging Het
Snx2 T C 18: 53,349,459 (GRCm39) F407L probably benign Het
Srrm2 T A 17: 24,039,219 (GRCm39) N1954K probably damaging Het
Syk A T 13: 52,792,195 (GRCm39) M429L probably benign Het
Tln2 T A 9: 67,264,029 (GRCm39) N537Y probably damaging Het
Usp29 T A 7: 6,966,629 (GRCm39) M824K probably benign Het
Utrn A G 10: 12,423,803 (GRCm39) probably benign Het
Wdr37 C T 13: 8,885,406 (GRCm39) D346N probably damaging Het
Other mutations in Zfpm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Zfpm2 APN 15 40,962,683 (GRCm39) missense probably damaging 1.00
IGL00815:Zfpm2 APN 15 40,962,887 (GRCm39) missense probably benign 0.37
IGL00821:Zfpm2 APN 15 40,966,783 (GRCm39) missense probably damaging 1.00
IGL01622:Zfpm2 APN 15 40,965,320 (GRCm39) missense probably benign 0.07
IGL01623:Zfpm2 APN 15 40,965,320 (GRCm39) missense probably benign 0.07
IGL01807:Zfpm2 APN 15 40,616,452 (GRCm39) critical splice donor site probably null
IGL01872:Zfpm2 APN 15 40,965,783 (GRCm39) missense probably benign
IGL02087:Zfpm2 APN 15 40,966,517 (GRCm39) missense probably damaging 0.97
IGL02123:Zfpm2 APN 15 40,965,591 (GRCm39) missense probably damaging 1.00
IGL02355:Zfpm2 APN 15 40,962,890 (GRCm39) missense probably damaging 1.00
IGL02362:Zfpm2 APN 15 40,962,890 (GRCm39) missense probably damaging 1.00
IGL02579:Zfpm2 APN 15 40,962,868 (GRCm39) missense possibly damaging 0.91
IGL02752:Zfpm2 APN 15 40,965,415 (GRCm39) missense probably benign 0.23
IGL02792:Zfpm2 APN 15 40,966,409 (GRCm39) missense probably benign 0.00
IGL02861:Zfpm2 APN 15 40,966,662 (GRCm39) missense probably damaging 0.98
IGL03180:Zfpm2 APN 15 40,964,790 (GRCm39) missense probably damaging 1.00
IGL03344:Zfpm2 APN 15 40,966,170 (GRCm39) missense probably benign
R0305:Zfpm2 UTSW 15 40,637,431 (GRCm39) splice site probably benign
R0365:Zfpm2 UTSW 15 40,637,462 (GRCm39) missense possibly damaging 0.88
R1171:Zfpm2 UTSW 15 40,965,075 (GRCm39) missense probably damaging 1.00
R1456:Zfpm2 UTSW 15 40,965,877 (GRCm39) missense probably damaging 1.00
R1482:Zfpm2 UTSW 15 40,962,687 (GRCm39) missense probably damaging 1.00
R1580:Zfpm2 UTSW 15 40,966,605 (GRCm39) missense possibly damaging 0.84
R2119:Zfpm2 UTSW 15 40,966,419 (GRCm39) missense probably damaging 1.00
R2189:Zfpm2 UTSW 15 40,964,579 (GRCm39) missense possibly damaging 0.76
R2867:Zfpm2 UTSW 15 40,962,785 (GRCm39) missense probably benign 0.06
R2867:Zfpm2 UTSW 15 40,962,785 (GRCm39) missense probably benign 0.06
R2886:Zfpm2 UTSW 15 40,965,719 (GRCm39) missense probably benign 0.44
R3024:Zfpm2 UTSW 15 40,966,355 (GRCm39) missense probably benign 0.00
R4043:Zfpm2 UTSW 15 40,734,023 (GRCm39) missense possibly damaging 0.94
R4178:Zfpm2 UTSW 15 40,966,940 (GRCm39) missense probably damaging 1.00
R4465:Zfpm2 UTSW 15 40,959,557 (GRCm39) missense probably benign 0.00
R5263:Zfpm2 UTSW 15 40,962,791 (GRCm39) missense probably benign 0.45
R5266:Zfpm2 UTSW 15 40,962,865 (GRCm39) missense probably benign 0.01
R5352:Zfpm2 UTSW 15 40,733,938 (GRCm39) missense probably benign 0.01
R5584:Zfpm2 UTSW 15 40,965,933 (GRCm39) missense probably benign 0.45
R5661:Zfpm2 UTSW 15 40,959,467 (GRCm39) nonsense probably null
R6437:Zfpm2 UTSW 15 40,962,793 (GRCm39) missense probably benign
R6660:Zfpm2 UTSW 15 40,518,981 (GRCm39) critical splice donor site probably null
R6742:Zfpm2 UTSW 15 40,965,114 (GRCm39) missense probably benign
R6749:Zfpm2 UTSW 15 40,818,104 (GRCm39) missense possibly damaging 0.90
R7363:Zfpm2 UTSW 15 40,616,413 (GRCm39) missense probably damaging 1.00
R7401:Zfpm2 UTSW 15 40,966,386 (GRCm39) missense possibly damaging 0.87
R7657:Zfpm2 UTSW 15 40,966,671 (GRCm39) missense possibly damaging 0.78
R7690:Zfpm2 UTSW 15 40,818,162 (GRCm39) missense possibly damaging 0.45
R7698:Zfpm2 UTSW 15 40,959,487 (GRCm39) missense probably benign 0.03
R7893:Zfpm2 UTSW 15 40,966,008 (GRCm39) missense probably damaging 1.00
R8223:Zfpm2 UTSW 15 40,616,355 (GRCm39) missense probably benign 0.34
R9028:Zfpm2 UTSW 15 40,966,758 (GRCm39) missense possibly damaging 0.87
R9065:Zfpm2 UTSW 15 40,962,712 (GRCm39) missense possibly damaging 0.95
R9234:Zfpm2 UTSW 15 40,966,470 (GRCm39) missense probably damaging 1.00
R9474:Zfpm2 UTSW 15 40,966,867 (GRCm39) missense probably damaging 1.00
R9694:Zfpm2 UTSW 15 40,965,710 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- TTGCCCACCTCCAACAGTAG -3'
(R):5'- TGGGTGGTAGCATTCTCCTAGC -3'

Sequencing Primer
(F):5'- CACCTCCAACAGTAGTGACG -3'
(R):5'- CTCTTGAGTGGAGCTACAAGG -3'
Posted On 2020-06-30